title: Upshaw-Schulman syndrome in two siblings.
abstract: Upshaw-Schulman syndrome is a rare disease, and familial occurrence has not been reported. In this paper, two Japanese brothers, aged 2 and 6 years, with microangiopathic hemolytic anemia, thrombocytopenia and fragmented red cells from the newborn period are reported. Unusually large von Willebrand factor (vWF) multimers were found in the plasma samples from both cases during remission, while the quantities of the unusually large vWF multimers decreased greatly at a low platelet count. They were temporarily relieved from hemolytic anemia and thrombocytopenia by infusions of plasma from normal donors. It appears that our patients lack an unidentified plasma factor, which is genetically determined.
authors.affiliation: Department of Pediatrics, Shimane Medical University, Izumo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Saitoh
authors.forename: H
authors.initials: H
authors.lastname: Murakami
authors.forename: C
authors.initials: C
authors.lastname: Mori
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000235:genetics*; D001792:Blood Platelets / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000151:congenital* / Q000235:genetics; D014841:von Willebrand Factor / Q000032:analysis
chemical_list: D014841:von Willebrand Factor